Bone Marrow Failure
Gene: ADH5EnsemblGeneIds (GRCh38): ENSG00000197894
EnsemblGeneIds (GRCh37): ENSG00000197894
OMIM: 103710, Gene2Phenotype
ADH5 is in 3 panels
2 reviews
Santosh Varughese (University of Melbourne)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AMED syndrome, digenic; Aplastic anaemia; myelodysplasia; short stature
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
7 individuals reported with bi-allelic variants in this gene and a Fanconi syndrome-like phenotype. All had aplastic anaemia, 4 developed a myelodysplastic syndrome, and one developed AML. Short stature and abnormal skin pigmentation were additional features.
Note, all also had the ALDH2*2 allele, which is common in East Asian populations, and may be contributory.
Extensive experimental data.
Sources: LiteratureCreated: 18 Nov 2020, 3:34 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AMED syndrome, digenic, MIM# 619151; Aplastic anaemia; myelodysplasia; short stature
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- AMED syndrome, digenic, MIM# 619151
- Aplastic anaemia
- myelodysplasia
- short stature
- OMIM
- 103710
- Clinvar variants
- Variants in ADH5
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ADH5 were changed from Aplastic anaemia; myelodysplasia; short stature to AMED syndrome, digenic, MIM# 619151; Aplastic anaemia; myelodysplasia; short stature
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adh5 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: adh5 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ADH5 was added gene: ADH5 was added to Bone Marrow Failure. Sources: Literature Mode of inheritance for gene: ADH5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADH5 were set to 33147438 Phenotypes for gene: ADH5 were set to Aplastic anaemia; myelodysplasia; short stature Review for gene: ADH5 was set to GREEN